Dermatologic Manifestations of Phenylketonuria Follow-up
- Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: Dirk M Elston, MD more...
Further Inpatient Care
Phe levels are monitored twice per week in neonates, weekly in infants, biweekly or every 3 weeks in toddlers, and monthly thereafter, even during adult life. The recommended Phe treatment targets are as follows[13] :
- Birth to age 4 years - Phe level of 100-350 μmol/L
- Older children and adults - Phe level of greater than 600 μmol/L
Attention should be given to variability in blood Phe levels and to maintenance within the recommended range.[14]
During pregnancy, a weekly sampling test is recommended.
Complications
Agoraphobia is a complication. For other complications, see Physical.
Prognosis
The prognosis for normal intelligence is good when patients have been put on a diet low in Phe in the first month of life.
A quantitative, proportional relationship exists between blood Phe levels and intelligence quotient (IQ) for early-treated patients with phenylketonuria (PKU), assessed during critical, early childhood years (age 0–12 y) or by a lifetime Index of Dietary Control. A 100-μmol/l increase in Phe has resulted in a 1.3- to 4.1-point reduction in IQ.[15]
Patients with PKU who are treated early and continuously can have a normal health-related quality of life and course of life.[16]
Patient Education
Teach patients how to initiate and continue the diet. Poor dietary control is often associated with increasing noncompliance by older children, but it could also be due to a more relaxed dietary approach by parents and increasing dietary errors.[17]
The Phe-restricted diet with semisynthetic supplementation is not without risk. Phenylketonuria (PKU) patients under dietary treatment can have low concentrations of trace elements and cholesterol and can have some disturbance to folate metabolism and distortion of their fatty acid profile.[5]
Educate women with PKU about the risks of untreated pregnancy and the benefits of dietary treatment.
The organization National PKU News is a nonprofit entity dedicated to providing up-to-date, accurate news and information to families and professionals dealing with PKU. This site contains excellent articles and links to other information sources. Information on how to subscribe to a PKU newsletter and on how to contact support groups is available. Numerous other PKU Web sites are available to assist families in search of additional information.
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